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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725693G>T , CM000682.2:g.46725693G>T
GRCh38
NC_000020.10:g.45354332G>T , CM000682.1:g.45354332G>T
GRCh37
NC_000020.9:g.44787739G>T
NCBI36
NG_016284.1:g.21054G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.657G>T
MANE Select
ENSP00000352216.2:p.Leu219=
ENST00000359271.3:c.657G>T
ENSP00000352216.2:p.Leu219=
NM_030777.3:c.657G>T
NP_110404.1:p.Leu219=
XM_011529060.1:c.720G>T
XP_011527362.1:p.Leu240=
XM_011529061.1:c.666G>T
XP_011527363.1:p.Leu222=
XM_011529062.1:c.720G>T
XP_011527364.1:p.Leu240=
XM_011529063.1:c.720G>T
XP_011527365.1:p.Leu240=
XM_011529064.1:c.720G>T
XP_011527366.1:p.Leu240=
XM_011529065.1:c.720G>T
XP_011527367.1:p.Leu240=
XR_936641.1:n.856G>T
XM_011529060.2:c.720G>T
XP_011527362.1:p.Leu240=
XM_011529061.2:c.666G>T
XP_011527363.1:p.Leu222=
XM_011529062.2:c.720G>T
XP_011527364.1:p.Leu240=
XM_011529063.2:c.720G>T
XP_011527365.1:p.Leu240=
XM_011529064.2:c.720G>T
XP_011527366.1:p.Leu240=
XM_011529065.2:c.720G>T
XP_011527367.1:p.Leu240=
XM_017028087.2:c.657G>T
XP_016883576.1:p.Leu219=
XR_936641.2:n.843G>T
NM_030777.4:c.657G>T
MANE Select
NP_110404.1:p.Leu219=